What is the official name of the MTHFR gene?
The official name of this gene is “methylenetetrahydrofolate reductase (NAD(P)H).”
What is the normal function of the MTHFR gene?
The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Methylenetetrahydrofolate reductase is important for a chemical reaction involving forms of the vitamin folate (also called vitamin B9). Specifically, this enzyme converts a molecule called 5,10-methylenetetrahydrofolate to a molecule called 5-methyltetrahydrofolate. This reaction is required for the multistep process. The body uses methionine to make proteins and other important compounds.
How are changes in the MTHFR gene related to health conditions?
Depression-associated with methylfolate deficiency related to impaired folate metabolism as a result of variations in the MTHFR enzyme polymorphism.
- Anencephaly-associated with the MTHFR gene
Several variations (polymorphisms) in the MTHFR gene have been associated with an increased risk of neural tube defects, a group of birth defects that occur during the development of the brain and spinal cord. Anencephaly is one of the most common types of neural tube defect. Affected individuals are missing large parts of the brain and have missing or incompletely formed skull bones.The most well-studied polymorphism related to neural tube defects changes a single DNA building block (nucleotide) in the MTHFR gene. Specifically, it replaces the nucleotide cytosine with the nucleotide thymine at position 677 (written as 677C>T).
Spina Bifida-associated with the MTHFR gene
- Polymorphisms in the MTHFR gene are also associated with an increased risk of spina bifida, another common type of neural tube defect. In people with this condition, when the spine forms, the bones of the spinal column do not close completely around the developing nerves of the spinal cord. As a result, part of the spinal cord may stick out through an opening in the spine, leading to permanent nerve damage. As described above, variations in the MTHFR gene may increase the risk of neural tube defects by changing the ability of methylenetetrahydrofolate reductase to process folate.
- Other disorders-increased risk from variations of the MTHFR gene
- Polymorphisms in the MTHFR gene have also been studied as possible risk factors for a variety of common conditions. These include heart disease, stroke, high blood pressure (hypertension), high blood pressure during pregnancy (preeclampsia), an eye disorder called glaucoma, psychiatric disorders, including depression, and certain types of cancer. The 677C>T polymorphism in the MTHFR gene has also been suggested as a risk factor for cleft lip and palate, a birth defect in which there is a split in the upper lip and an opening in the roof of the mouth. A large number of genetic and environmental factors, many of which remain unknown, likely determine the risk of developing these common, complex conditions.